| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46132386G>C | CA10588713 | COL6A2 | c.2894G>C (p.Arg965Pro) n.2971G>C n.2978G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46132386G>A | CA10073083 | COL6A2 | c.2894G>A (p.Arg965His) n.2971G>A n.2978G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.46132386G= | CA2392512809 | COL6A2 | c.2894G= (p.Arg965=) n.2971G= n.2978G= | dbSNP |